ClinVar Miner

Submissions for variant NM_001077350.3(NPRL3):c.1070del (p.Pro357fs)

dbSNP: rs886037962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000241093 SCV001592166 pathogenic Epilepsy, familial focal, with variable foci 3 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro357Hisfs*56) in the NPRL3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPRL3 are known to be pathogenic (PMID: 26285051, 26505888). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with familial focal epilepsy with variable foci (PMID: 27173016). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 254361). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000241093 SCV000299386 pathogenic Epilepsy, familial focal, with variable foci 3 2016-09-21 no assertion criteria provided literature only

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